Generation of two human induced pluripotent stem cell lines (iPSC) from patients with Hao-Fountain Syndrome
Hao-Fountain Syndrome (HAFOUS) is an autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the USP7 gene. Research into the molecular mechanisms of HAFOUS has been limited by the lack of suitable human model systems. In this study, we introduce induced pluripotent stem cell (iPSC) lines derived from a HAFOUS patient, providing a valuable model to investigate mechanisms of altered cell lineage commitment during disease progression. This model offers a platform to explore the role of USP7 variants in HAFOUS pathogenesis and develop potential therapeutic strategies.
Authors
- Vivi M. Heine (ORCID: https://orcid.org/0000-0003-4416-3875)
- Niels Vos (ORCID: https://orcid.org/0000-0001-6001-3426)
- Stephanie Dooves (ORCID: https://orcid.org/0000-0002-8090-766X)
- Liselot van der Laan (ORCID: https://orcid.org/0000-0002-7800-8665)
- manasa Kalya Purushothama
- Nicole Breeuwsma
- Rob Zwart
- Julia Kempff
- Peter Henneman
- Imo de Pruyssenaere de la Woestijne
- Mieke M. van Haelst
- Jaime Houterman
Institutions
- Hebron University (PS)
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- Cognitive Research (United States) (US)
- University of Amsterdam (NL)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-02-17
- DOI
- https://doi.org/10.1016/j.scr.2026.103934
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00